OR4K15

olfactory receptor family 4 subfamily K member 15, the group of Olfactory receptors, family 4

Basic information

Region (hg38): 14:19975590-19976565

Links

ENSG00000169488 ∙ NCBI:81127 ∙ ∙ HGNC:15353 ∙ Uniprot:Q8NH41 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OR4K15 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR4K15 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			22			22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	1	0

Variants in OR4K15

This is a list of pathogenic ClinVar variants found in the OR4K15 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
14-19975598-A-G		not specified	Uncertain significance (Jun 11, 2021)
14-19975649-C-T		not specified	Uncertain significance (Oct 27, 2021)
14-19975713-C-A			Likely benign (Mar 01, 2022)
14-19975751-G-A		not specified	Uncertain significance (May 31, 2023)
14-19975801-G-A		not specified	Likely benign (Apr 24, 2024)
14-19975855-C-T		not specified	Uncertain significance (May 11, 2022)
14-19975944-G-T		not specified	Uncertain significance (Jan 05, 2022)
14-19975954-C-A		not specified	Uncertain significance (Mar 12, 2024)
14-19976002-C-T		not specified	Uncertain significance (Sep 23, 2023)
14-19976102-C-T		not specified	Uncertain significance (Jun 29, 2022)
14-19976113-G-C		not specified	Uncertain significance (Mar 20, 2023)
14-19976123-T-C		not specified	Uncertain significance (May 18, 2022)
14-19976183-T-C		not specified	Uncertain significance (Apr 24, 2024)
14-19976227-C-T		not specified	Uncertain significance (Jan 23, 2024)
14-19976276-C-G		not specified	Uncertain significance (Jul 14, 2021)
14-19976286-C-A		not specified	Uncertain significance (Apr 04, 2024)
14-19976287-A-G		not specified	Uncertain significance (Jun 05, 2023)
14-19976299-C-T		not specified	Uncertain significance (Jul 26, 2021)
14-19976323-A-G		not specified	Uncertain significance (Oct 13, 2023)
14-19976329-G-T		not specified	Uncertain significance (Nov 07, 2022)
14-19976380-A-G		not specified	Uncertain significance (Jan 10, 2023)
14-19976425-A-G		not specified	Uncertain significance (Aug 17, 2021)
14-19976446-A-G		not specified	Uncertain significance (Jun 07, 2024)
14-19976462-A-G		not specified	Uncertain significance (Apr 13, 2023)
14-19976501-G-A		not specified	Uncertain significance (Mar 15, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR4K15	protein_coding	protein_coding	ENST00000305051	1	1216

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0189	0.749	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.24	233	186	1.26	0.00000998	2250
Missense in Polyphen		66	50.064	1.3183		709
Synonymous	-1.76	89	70.2	1.27	0.00000349	748
Loss of Function	0.811	3	4.95	0.606	2.12e-7	83

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Odorant receptor. {ECO:0000305}.
• Pathway: Olfactory transduction - Homo sapiens (human);Olfactory receptor activity;Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.0906

Intolerance Scores

• loftool: 0.516
• rvis_EVS: 1.62
• rvis_percentile_EVS: 96.01

Haploinsufficiency Scores

• pHI: 0.0513
• hipred: N
• hipred_score: 0.203

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0982

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Olfr727

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;detection of chemical stimulus involved in sensory perception of smell
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity;olfactory receptor activity